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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

KCNK1 Gene

protein-coding   GIFtS: 65
GCID: GC01P233750

Potassium Channel, Subfamily K, Member 1

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Potassium Channel, Subfamily K, Member 11 2     K2P12
TWIK12 3 5     K2p1.12
Inward Rectifying Potassium Channel Protein TWIK-12 3     TWIK-12
Potassium Channel KCNO12 3     Potassium Channel Subfamily K Member 12
KCNO12 3     Potassium Inwardly-Rectifying Channel, Subfamily K, Member 12
DPK2     HOHO13
HOHO2     

External Ids:    HGNC: 62721   Entrez Gene: 37752   Ensembl: ENSG000001357507   OMIM: 6017455   UniProtKB: O001803   

Export aliases for KCNK1 gene to outside databases

Previous GC identifers: GC01P232011 GC01P229309 GC01P230077 GC01P230834 GC01P230056 GC01P231817 GC01P204240


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for KCNK1 Gene:
This gene encodes one of the members of the superfamily of potassium channel proteins containing two pore-forming
P domains. The product of this gene has not been shown to be a functional channel, however, it may require other
non-pore-forming proteins for activity. (provided by RefSeq, Jul 2008)

GeneCards Summary for KCNK1 Gene: 
KCNK1 (potassium channel, subfamily K, member 1) is a protein-coding gene. Diseases associated with KCNK1 include hypokalemia, and maturity-onset diabetes of the young, and among its related super-pathways are Melatonin Signaling and Activation of cAMP-Dependent PKA. GO annotations related to this gene include inward rectifier potassium channel activity. An important paralog of this gene is KCNK15.

UniProtKB/Swiss-Prot: KCNK1_HUMAN, O00180
Function: Weakly inward rectifying potassium channel

Gene Wiki entry for KCNK1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.2  NT_167186.1  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the KCNK1 gene promoter:
         NF-1/L   NF-1   Pax-5   AML1a   MIF-1   AP-4   C/EBPalpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKCNK1 promoter sequence
   Search SABiosciences Chromatin IP Primers for KCNK1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KCNK1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1q42-q43   Ensembl cytogenetic band:  1q42.2   HGNC cytogenetic band: 1q42-q43

KCNK1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KCNK1 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P233750:  view genomic region     (about GC identifiers)

Start:
233,749,750 bp from pter      End:
233,808,258 bp from pter
Size:
58,509 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: KCNK1_HUMAN, O00180 (See protein sequence)
Recommended Name: Potassium channel subfamily K member 1  
Size: 336 amino acids; 38143 Da
Subunit: Homodimer; disulfide-linked
Subcellular location: Membrane; Multi-pass membrane protein (Potential)
Miscellaneous: Inhibited by barium, quinine, quinidine and internal acidification. Activated by protein kinase C
1 PDB 3D structure from and Proteopedia for KCNK1:
3UKM (3D)    
Secondary accessions: Q13307 Q5T5E8

Explore the universe of human proteins at neXtProt for KCNK1: NX_O00180

Explore proteomics data for KCNK1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O00180

  • KCNK1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    KCNK1 Protein Expression
    REFSEQ proteins: NP_002236.1  
    ENSEMBL proteins: 
     ENSP00000355580   ENSP00000355579   ENSP00000409626  
    Reactome Protein details: O00180
    Human Recombinant Protein Products for KCNK1: 
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    Cloud-Clone Corp. Proteins for KCNK1 

    Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ----
    GO:0005768endosome IEA--
    GO:0005886plasma membrane TAS--
    GO:0008076voltage-gated potassium channel complex TAS8605869
    GO:0016020membrane ----

    KCNK1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    KCN: Potassium channels
    KCNK: Voltage-gated ion channels / Potassium channels, Two-P

    IUPHAR Guide to PHARMACOLOGY protein family classification: K2P1.1 
    Two-P potassium channels

    5 InterPro protein domains:
     IPR003280 2pore_dom_K_chnl
     IPR022306 2pore_dom_K_chnl_TASK/TWIK
     IPR005408 2pore_dom_K_chnl_TWIK
     IPR001779 2pore_dom_K_chnl_TWIK1
     IPR013099 Ion_trans_2

    Graphical View of Domain Structure for InterPro Entry O00180

    ProtoNet protein and cluster: O00180

    4 Blocks protein domains:
    IPB001779 TWIK-1 K+ channel subunit signature
    IPB003280 Two pore domain K+ channel signature
    IPB005408 TWIK-1/TWIK-2 K+ channel family signature
    IPB013099 Ion transport 2


    UniProtKB/Swiss-Prot: KCNK1_HUMAN, O00180
    Similarity: Belongs to the two pore domain potassium channel (TC 1.A.1.8) family


    KCNK1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: KCNK1_HUMAN, O00180
    Function: Weakly inward rectifying potassium channel

         Genatlas biochemistry entry for KCNK1:
    potassium non voltage-gated channel inwardly rectifying,subfamily K,member 1

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005242inward rectifier potassium channel activity TAS8605869
    GO:0005267potassium channel activity ----
         
    KCNK1 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for KCNK1:
     Increased G2M DNA content  Increased number of mitotic ce 

         3 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Kcnk1):
     homeostasis/metabolism  no phenotypic analysis  renal/urinary system 

    KCNK1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Kcnk1tm1.1Barh for KCNK1

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    SwitchGear 3'UTR luciferase reporter plasmidKCNK1 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for KCNK1 About   (see all 10)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Sweet Taste Signaling
    Sweet Taste Signaling0.72
    Bitter Taste Signaling0.44
    Melatonin Signaling0.72
    Sperm Motility0.37
    Cellular Effects of Sildenafil0.46
    2Activation of cAMP-Dependent PKA
    Activation of cAMP-Dependent PKA0.77
    PKA Signaling0.56
    cAMP Pathway0.77
    3Neuropathic Pain-Signaling in Dorsal Horn Neurons
    Neuropathic Pain-Signaling in Dorsal Horn Neurons0.47
    Cholera Infection0.40
    Aldosterone Signaling in Epithelial Cells0.47
    4Hepatic ABC Transporters
    Hepatic ABC Transporters0.41
    MODY (Maturity-Onset Diabetes of Young)0.41
    5Transmission across Chemical Synapses
    Neuronal System0.67

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for KCNK1
        Potassium transporters- inward current

    5/13 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for KCNK1 (see all 13)
        Cholera Infection
    Neuropathic Pain-Signaling in Dorsal Horn Neurons
    Hepatic ABC Transporters
    PKA Signaling
    Sweet Taste Signaling

    4        Reactome Pathways for KCNK1
        Potassium Channels
    Tandem of pore domain in a weak inwardly rectifying K+ channels (TWIK)
    Neuronal System
    Tandem pore domain potassium channels

    1 PharmGKB Pathway for KCNK1
        Antiarrhythmic Pathway, Pharmacodynamics


    KCNK1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for KCNK1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    5/7 Interacting proteins for KCNK1 (O001803 ENSP000003555804) via UniProtKB, MINT, STRING, and/or I2D (see all 7)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SENP1Q9P0U33, ENSP000003947914I2D: score=2 STRING: ENSP00000394791
    UBE2IP632793, ENSP000003248974I2D: score=2 STRING: ENSP00000324897
    SUMO1ENSP000003760764STRING: ENSP00000376076
    UBE2G2ENSP000003383484STRING: ENSP00000338348
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006813potassium ion transport TAS8605869
    GO:0007268synaptic transmission TAS--
    GO:0035094response to nicotine IEA--
    GO:0071805potassium ion transmembrane transport ----

    KCNK1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    KCNK1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for KCNK1 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    Cesium chloridePotassium channel blocker; neuroprotective[7647-17-8]
    YS-035 hydrochlorideInhibits K+ outward/pacemaker current[33978-72-2]
    BL 1249Putative K2P2.1 (TREK-1) channel opener[18200-13-0]
    DMP 543K+ channel blocker and potent ACh release enhancer[160588-45-4]
    Tetraethylammonium chlorideNon-selective K+ channel blocker[56-34-8]

    1 HMDB Compound for KCNK1    About this table
    CompoundSynonyms CAS #PubMed Ids
    PotassiumK+ (see all 16)7440-09-7--

    3 DrugBank Compounds for KCNK1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    IbutilideIbutilida [INN-Spanish] (see all 3)122647-32-9targetinhibitor15926871 9257085
    Quinidine-- 56-54-2targetinhibitor9003761 8605869
    Quinidine barbiturate-- --targetinhibitor9003761 8605869

    2 Novoseek inferred chemical compound relationships for KCNK1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    quinidine 76.7 1 9003761 (1)
    quinine 67.9 1 9003761 (1)

    Search CenterWatch for drugs/clinical trials and news about KCNK1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for KCNK1 gene: 
    NM_002245.3  

    Unigene Cluster for KCNK1:

    Potassium channel, subfamily K, member 1
    Hs.208544  [show with all ESTs]
    Unigene Representative Sequence: AL833343
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000366621(uc010pxo.1) ENST00000472190 ENST00000366620 ENST00000487728
    ENST00000446915 ENST00000472869
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    Additional mRNA sequence: 

    AK090902.1 AK314016.1 AL833343.1 BC018051.1 U33632.1 U76996.1 U90065.1 

    7 DOTS entries:

    DT.115214  DT.95170502  DT.100779125  DT.99999557  DT.100024093  DT.121394875  DT.100779122 

    24/104 AceView cDNA sequences (see all 104):

    AI129709 AA056966 AA468660 BM920708 BM817751 AI924793 BU678838 F03207 
    AW044036 CA312334 CR590911 CK904718 Z39663 BM068723 BM792236 BM785386 
    BP362840 AA307980 BI254079 AK090902 BC018051 CK003123 AW044034 F06938 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for KCNK1 (see all 6)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b · 8c
    SP1:                    -     -     -     -                                 
    SP2:                                -     -                                 
    SP3:              -     -           -     -                                 
    SP4:              -     -     -     -     -                                 
    SP5:                                      -                                 


    ECgene alternative splicing isoforms for KCNK1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    KCNK1 expression in normal human tissues (normalized intensities)      KCNK1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TACCCACCCA
    KCNK1 Expression
    About this image


    KCNK1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/10 selected tissues (see all 10) fully expand
     
     Brain (Nervous System)    fully expand to see all 17 entries
             Thalamus
             Septum   
     
     Kidney (Urinary System)    fully expand to see all 4 entries
             Ureteric Bud Cells Ureteric Bud
             Renal Collecting Duct System
             visceral organ/metanephros/calyx   
     
     Lower Urinary Tract (Urinary System)    fully expand to see all 2 entries
             visceral organ/bladder/detrusor muscle of bladder   
     
     Spinal Cord (Nervous System)    fully expand to see all 2 entries
             Dorsal Horn   
     
     Gut Tube (Gastrointestinal Tract)
             Definitive endoderm-like cells ( A scalable, suspension protocol for derivation of...

    See KCNK1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for KCNK1

    SOURCE GeneReport for Unigene cluster: Hs.208544

    UniProtKB/Swiss-Prot: KCNK1_HUMAN, O00180
    Tissue specificity: Widely expressed with high levels in heart and brain and lower levels in placenta, lung, liver
    and kidney

        SABiosciences Expression via Pathway-Focused PCR Array including KCNK1: 
              Neuronal Ion Channels in human mouse rat

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for KCNK1 gene from 6/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Kcnk11 , 5 potassium channel, subfamily K, member 11, 5 88.89(n)1
    94.94(a)1
      8 (73.67 cM)5
    165251  NM_008430.21  NP_032456.21 
     1259951025 
    chicken
    (Gallus gallus)
    Aves KCNK11 potassium channel, subfamily K, member 1 84.72(n)
    89.88(a)
      421519  XM_419561.3  XP_419561.1 
    lizard
    (Anolis carolinensis)
    Reptilia KCNK16
    Uncharacterized protein
    91(a)
    1 ↔ 1
    1(220519470-220545443)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC534102 similar to potassium channel, subfamily K, member 1 72.75(n)    BC042262.1 
    zebrafish
    (Danio rerio)
    Actinopterygii kcnk1a1 potassium channel, subfamily K, member 1a 71.46(n)
    72.5(a)
      793480  NM_001098753.1  NP_001092223.1 
    worm
    (Caenorhabditis elegans)
    Secernentea Y39B6A.193
    twk-461
    Protein TWK-461 37(a)3
    46.33(n)1
    38.19(a)1
      V(19056869-19063586)3
    1802521  NM_171588.31  NP_741678.11 


    ENSEMBL Gene Tree for KCNK1 (if available)
    TreeFam Gene Tree for KCNK1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for KCNK1 gene
    KCNK152  KCNK52  KCNK162  KCNK32  KCNK122  KCNK92  KCNK62  KCNK22  
    KCNK102  KCNK72  KCNK172  KCNK42  KCNK132  
    7 SIMAP similar genes for KCNK1 using alignment to 3 protein entries:     KCNK1_HUMAN (see all proteins):
    KCNK6    KCNK7    KCNK10    KCNK4    KCNK16    KCNK2
    KCNK5

    KCNK1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1251 SNPs in KCNK1 are shown (see all 1251)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs120726911,2
    C--233747834(+) GCTACG/AGCCGG 1 -- us2k13Minor allele frequency- A:0.15CSA WA 121
    rs1387388201,2
    --233747920(+) GGTTAC/TAGAGC 1 -- us2k10--------
    rs1493475461,2
    --233747923(+) TACAGA/GGCAGG 1 -- us2k10--------
    rs1931785021,2
    --233748195(+) AGGAGC/GTAAGG 1 -- us2k10--------
    rs789560581,2
    C,F--233748196(+) GGAGGT/AAAGGC 1 -- us2k12Minor allele frequency- A:0.04NA 122
    rs741456111,2
    C,F--233748251(+) TGCACA/TAGTTT 1 -- us2k13Minor allele frequency- T:0.10WA CSA 121
    rs1146708291,2
    C,F--233748316(+) GTTCAG/ACTAGG 1 -- us2k11Minor allele frequency- A:0.03WA 118
    rs1437341921,2
    --233748488(+) GGAGAC/TAGTTT 1 -- us2k10--------
    rs1850426271,2
    --233748698(+) ATTGTC/TCTGAG 1 -- us2k10--------
    rs1901899181,2
    --233748709(+) TCTTCA/GTTATT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for KCNK1 (233749750 - 233808258 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for KCNK1:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv27945CNV Loss19812545
    nsv528071CNV Loss19592680
    nsv522207CNV Loss19592680
    nsv827298CNV Gain20364138
    nsv827287CNV Gain20364138

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    DNA2.0 Custom Variant and Variant Library Synthesis for KCNK1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 601745    OMIM disorders: --

    6 diseases for KCNK1:    About MalaCards
    hypokalemia    maturity-onset diabetes of the young    cholera    atherosclerosis
    neuronitis    hepatitis


    KCNK1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): KCNK1
    Human Genome Epidemiology (HuGE) Navigator: KCNK1 (2 documents)

    Export disorders for KCNK1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for KCNK1 gene, integrated from 9 sources (see all 37):
    (articles sorted by number of sources associating them with KCNK1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. TWIK-1, a ubiquitous human weakly inward rectifying K+ channel with a novel structure. (PubMed id 8605869)1, 2, 7, 9 Lesage F....Barhanin J. (1996)
    2. Crystal structure of the human two-pore domain potass ium channel K2P1. (PubMed id 22282804)1, 2 Miller A.N. and Long S.B. (2012)
    3. Integrative predictive model of coronary artery calci fication in atherosclerosis. (PubMed id 19948975)1, 4 McGeachie M....Ramoni M.F. (2009)
    4. International Union of Pharmacology. LV. Nomenclature and molecular relationships of two-P potassium channels. (PubMed id 16382106)1, 3 Goldstein S.A....Rajan S. (2005)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    6. Sequence and function of the two P domain potassium channels: implications of an emerging superfamily. (PubMed id 9462864)1, 2 Goldstein S.A.N.... Pausch M.H. (1998)
    7. Cloning and localization of a double-pore K channel, KCNK1: exclusive expression in distal nephron segments. (PubMed id 9362344)1, 2 Orias M.... Desir G.V. (1997)
    8. Assignment of the human weak inward rectifier K+ channel TWIK-1 gene to chromosome 1q42-q43. (PubMed id 8661042)1, 3 Lesage F....Lazdunski M. (1996)
    9. Differential distribution of inward rectifier potassium channel transcripts in human atrium versus ventricle. (PubMed id 9832487)1, 9 Wang Z....Nattel S. (1998)
    10. Cloning, functional expression and brain localization of a novel unconventional outward rectifier K+ channel. (PubMed id 9003761)7, 9 Fink M....Lazdunski M. (1996)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 3775 HGNC: 6272 AceView: KCNK1 Ensembl:ENSG00000135750 euGenes: HUgn3775
    ECgene: KCNK1 H-InvDB: KCNK1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for KCNK1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for KCNK1 gene:
    Search GeneIP for patents involving KCNK1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

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